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Peer-reviewedCC BY 4.0Breast Cancer Research and Treatment

Male breast cancer: clinicopathological features and prevalence of germline pathogenic variants

  • P. V. B. D. Cerqueira1,2,3
  • F. A. B. Campos1
  • S. M. Caputo4
  • E. Rouleau5
  • H. K. Mantovani6
  • L. R. da Silva6
  • A. L. Cicilini1
  • S. M. Sanches1
  • F. Makdissi1
  • A. A. B. A. da Costa1
  • M. De Brot1
  • C. Osório1
6 more authors
  • V. Castro Vasconcelos6
  • V. Cordeiro de Lima1
  • J. C. Casali da rocha1
  • D. Carraro1
  • G. Torrezan1
  • E. Santana dos Santos1
6 affiliations
  1. 1A.C. Camargo Cancer Center, Tamandaré 753, São Paulo, SP 01525-001 Brazil
  2. 2Department of Oncology, Instituto De Assistência Médica Ao Servidor Público Estadual, Pedro de Toledo, 1800, São Paulo, 04039-000 Brasil
  3. 3Present Address: Department of Oncology, Instituto de Assistência Médica ao Servidor Público Estadual (IAMSPE), São Paulo, Brazil
  4. 4Department of Genetics, Institut Curie, Paris Sciences Lettre University, Paris, France
  5. 5Department of Genetics, Gustave Roussy, Paris, France
  6. 6UNICAMP - Universidade Estadual de Campinas, São Paulo, Brasil
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Abstract

Purpose: Male breast cancer is rare, and data on its clinicopathological and germline characteristics remain scarce. Our objective was to describe the clinicopathological profile of men with breast cancer and to estimate the prevalence of pathogenic germline variants in cancer predisposition genes.

Methods: This multicenter retrospective study included adult men diagnosed with breast cancer between January 2000 and June 2022 at two institutions. Clinical and pathological data were obtained from medical records. Germline analysis was performed in patients without prior testing using DNA from biobanks or saliva samples and a custom multigene panel.

Results: A total of 106 patients were included. Median age at diagnosis was 58.5 years (range, 33–84), and 64% reported a family history of cancer. Invasive ductal carcinoma was the predominant histological subtype (88%). Most tumors were grade 2 or 3 (90%) and hormone receptor-positive (93%). Hormone receptor-negative/HER2-positive disease was rare (1%), and triple-negative breast cancer accounted for 4% of cases. At diagnosis, 65% had stage II or III disease. Germline testing was performed in 55 patients, of whom 12 (22%) harbored pathogenic or likely pathogenic variants. The most frequently affected gene was BRCA2 (11%), followed by CHEK2 (5.5%), MUTYH (3.6%), and RAD51C (1.8%).

Conclusion: Male breast cancer in this cohort was predominantly luminal, high-grade, and frequently diagnosed at advanced stages. The high prevalence of germline pathogenic variants, including among patients without a strong family history, supports broader implementation of genetic counseling and multigene testing in this population.

Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10549-026-08062-9.

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Cite

BibTeXRIS
BibTeX
@article{cerqueira2026male,
  title = {{Male breast cancer: clinicopathological features and prevalence of germline pathogenic variants}},
  author = {P. V. B. D. Cerqueira and F. A. B. Campos and S. M. Caputo and E. Rouleau and H. K. Mantovani and L. R. da Silva and A. L. Cicilini and S. M. Sanches and F. Makdissi and A. A. B. A. da Costa and M. De Brot and C. Osório and V. Castro Vasconcelos and V. Cordeiro de Lima and J. C. Casali da rocha and D. Carraro and G. Torrezan and E. Santana dos Santos},
  journal = {Breast Cancer Research and Treatment},
  year = {2026},
  month = nov,
  doi = {10.1007/s10549-026-08062-9},
  url = {https://doi.org/10.1007/s10549-026-08062-9},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Male breast cancer: clinicopathological features and prevalence of germline pathogenic variants
AU  - P. V. B. D. Cerqueira
AU  - F. A. B. Campos
AU  - S. M. Caputo
AU  - E. Rouleau
AU  - H. K. Mantovani
AU  - L. R. da Silva
AU  - A. L. Cicilini
AU  - S. M. Sanches
AU  - F. Makdissi
AU  - A. A. B. A. da Costa
AU  - M. De Brot
AU  - C. Osório
AU  - V. Castro Vasconcelos
AU  - V. Cordeiro de Lima
AU  - J. C. Casali da rocha
AU  - D. Carraro
AU  - G. Torrezan
AU  - E. Santana dos Santos
PY  - 2026
DA  - 2026/11/04
JO  - Breast Cancer Research and Treatment
DO  - 10.1007/s10549-026-08062-9
UR  - https://doi.org/10.1007/s10549-026-08062-9
AB  - Purpose: Male breast cancer is rare, and data on its clinicopathological and germline characteristics remain scarce. Our objective was to describe the clinicopathological profile of men with breast cancer and to estimate the prevalence of pathogenic germline variants in cancer predisposition genes.  Methods: This multicenter retrospective study included adult men diagnosed with breast cancer between January 2000 and June 2022 at two institutions. Clinical and pathological data were obtained from medical records. Germline analysis was performed in patients without prior testing using DNA from biobanks or saliva samples and a custom multigene panel.  Results: A total of 106 patients were included. Median age at diagnosis was 58.5 years (range, 33–84), and 64% reported a family history of cancer. Invasive ductal carcinoma was the predominant histological subtype (88%). Most tumors were grade 2 or 3 (90%) and hormone receptor-positive (93%). Hormone receptor-negative/HER2-positive disease was rare (1%), and triple-negative breast cancer accounted for 4% of cases. At diagnosis, 65% had stage II or III disease. Germline testing was performed in 55 patients, of whom 12 (22%) harbored pathogenic or likely pathogenic variants. The most frequently affected gene was BRCA2 (11%), followed by CHEK2 (5.5%), MUTYH (3.6%), and RAD51C (1.8%).  Conclusion: Male breast cancer in this cohort was predominantly luminal, high-grade, and frequently diagnosed at advanced stages. The high prevalence of germline pathogenic variants, including among patients without a strong family history, supports broader implementation of genetic counseling and multigene testing in this population.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10549-026-08062-9.
SN  - 0167-6806
SN  - 1573-7217
ER  -